Phenotypes Associated with This Genotype

Genotype
MGI:5449903

• Allelic Composition: Tg(SOD1)2Gur/0; Tg(SOD1*L126Z)#Deng/0
• Genetic Background: involves: C57BL/6 * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:109458 )

• lifespan is on average 201.4 days

nervous system

abnormal spinal cord grey matter morphology ( J:109458 )

• mutants exhibit protein aggregates, composed of both mutant and wild-type SOD1, in spinal cords

abnormal nervous system physiology ( J:109458 )

• mutants develop an amyotrophic lateral sclerosis-like phenotype, with an average onset of disease at 178.3 days

cellular

abnormal mitochondrial crista morphology ( J:109458 )

• mutants exhibit protein aggregation in spinal cord mitochondria, resulting in severely damaged cristae

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 1		DOID:0060193	OMIM:105400	J:109458